NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (IMNEPD)

Question 1

What is  NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (IMNEPD)?

Accepted Answer

very rare

autosomal recessive

mutation in the PTRH2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616263

Question 3

Which enzymes are involved?

Accepted Answer

Peptidyl-tRNA hydrolase 2, mitochondrial

Disease	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (IMNEPD)
OMIM	616263 OMIM = Online Mendelian Inheritance of Men
Orphanet	456312
Protein (UniProt)	Peptidyl-tRNA hydrolase 2, mitochondrial
ExPASy	3.1.1.29
Gene locus	17q23.1
ICD
Summary	very rare autosomal recessive mutation in the PTRH2 gene
Laboratory findings	no metabolic abnormalities () no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia brachycephaly dysmorphism finger anomalies hearing defect, deafness hip dysplasia, hip dyslocation hypertelorism hyporeflexia hypotonia microcephaly (<2 SD for age) clubfoot diabetes mellitus hepatomegaly (large liver) intellectual disability/intellectual developmental disorder onset, childhood onset, infancy pancreatic dysfunction, endocrine pancreatic dysfunction, exocrine peripheral neuropathy puberty, delayed or missing seizures short stature speech development, delayed, abnormal